Canonical Allele Identifier: CA338048953

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924003G>C (hg19) ; chr1:g.5863943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863943G>C , CM000663.2:g.5863943G>C	GRCh38
NC_000001.10:g.5924003G>C , CM000663.1:g.5924003G>C	GRCh37
NC_000001.9:g.5846590G>C	NCBI36
NG_011724.2:g.133529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4087C>G MANE Select	ENSP00000367398.4:p.His1363Asp
ENST00000378156.8:c.4087C>G	ENSP00000367398.4:p.His1363Asp
ENST00000378161.5:n.3238C>G
ENST00000378169.7:c.*2988C>G	ENSP00000367411.3:n.*2988C>G
ENST00000460696.1:n.2835C>G
ENST00000478423.6:n.3819C>G
ENST00000489180.6:c.*1898C>G	ENSP00000423747.1:n.*1898C>G
NM_001291593.1:c.2548C>G	NP_001278522.1:p.His850Asp
NM_001291594.1:c.2551C>G	NP_001278523.1:p.His851Asp
NM_015102.4:c.4087C>G	NP_055917.1:p.His1363Asp
NR_111987.1:n.4902C>G
XM_006710563.2:c.4087C>G	XP_006710626.1:p.His1363Asp
XM_006710565.2:c.4087C>G	XP_006710628.1:p.His1363Asp
XM_011541213.1:c.4084C>G	XP_011539515.1:p.His1362Asp
XM_011541214.1:c.4045C>G	XP_011539516.1:p.His1349Asp
XM_011541215.1:c.3976C>G	XP_011539517.1:p.His1326Asp
XM_011541216.1:c.4087C>G	XP_011539518.1:p.His1363Asp
XM_011541217.1:c.4087C>G	XP_011539519.1:p.His1363Asp
XM_011541218.1:c.4087C>G	XP_011539520.1:p.His1363Asp
XM_011541219.1:c.4033C>G	XP_011539521.1:p.His1345Asp
XM_006710563.3:c.4087C>G	XP_006710626.1:p.His1363Asp
XM_011541216.2:c.4087C>G	XP_011539518.1:p.His1363Asp
XM_011541217.2:c.4087C>G	XP_011539519.1:p.His1363Asp
XM_011541218.2:c.4087C>G	XP_011539520.1:p.His1363Asp
XM_017000996.1:c.4042C>G	XP_016856485.1:p.His1348Asp
XM_017000997.1:c.4087C>G	XP_016856486.1:p.His1363Asp
XM_017000999.1:c.3559C>G	XP_016856488.1:p.His1187Asp
XM_017001000.2:c.3559C>G	XP_016856489.1:p.His1187Asp
XM_017001001.1:c.3289C>G	XP_016856490.1:p.His1097Asp
XM_017001003.1:c.2548C>G	XP_016856492.1:p.His850Asp
XR_001737114.1:n.3953C>G
XR_001737115.1:n.3938C>G
NM_015102.5:c.4087C>G MANE Select	NP_055917.1:p.His1363Asp
NM_001291593.2:c.2548C>G	NP_001278522.1:p.His850Asp
NM_001291594.2:c.2551C>G	NP_001278523.1:p.His851Asp
NR_111987.2:n.4854C>G